亚甲基四氢叶酸还原酶基因多态性与缺血性卒中

Methylenetetrahydrofolate Reductase Gene Polymorphisms and Ischemic Stroke

近年来的研究表明，高同型半胱氨酸血症通过多种机制造成血管内皮损伤，破坏机体凝血和纤溶系统，影响脂质代谢，是卒中的独立危险因素。亚甲基四氢叶酸还原酶（MTHFR）是体内同型半胱氨酸代谢途径的关键酶，该酶含量不足或活性下降将直接导致同型半胱氨酸在体内的蓄积，从而引起高同型半胱氨酸血症。虽然许多研究发现MTHFR基因突变是该酶缺乏或活性下降的主要原因，但是MTHFR基因突变与缺血性脑血管病的相关关系目前颇有争议。文章就MTHFR基因多态性与缺血性卒中的关系进行综述。

Recent studies have demonstrated that hyperhomocysteinemia is an independent risk factor for stroke, which may cause vascular endothelial injury by multiple mechanisms, destroy blood coagulation and fibrinolytic systems, and influence on lipid metabolism. Methylenetetrahydrofolate reductase （MTHFR） is a key enzyme of homocysteine metabolic pathway in the human body. If it is insufficient or its activity decreases, it will directly result in the accumulation of homocysteine in the human body, and cause hyperhomocysteinemia. Although a number of studies have found that MTHFR gene mutation is the main cause of MTHFR insufficient and its activity decrease, the correlation between MTHFR gene mutation and ischemic cerebral vascular disease is quite controversial now. This article reviews the relationship between MTHFR gene polymorphisms and ischemic stroke.